Lathosterolosis
id:
lathosterolosis-267-14628463
title:
Lathosterolosis
text:
Lathosterolosis is an inborn error of cholesterol biosynthesis caused by a deficiency of the enzyme 3-beta-hydroxysteroid-delta-5-desaturase. This leads to a flaw in the conversion of lathosterol to 7-dehydrocholesterol. Characteristics include facial dysmorphism, congenital malformations, failure to thrive, developmental delay, and liver illness. Brunetti-Pierri et al. originally described Lathosterolosis in 2002.
brand slug:
wiki
category slug:
encyclopedia
description:
Recessive genetic condition
original url:
https://en.wikipedia.org/wiki/Lathosterolosis
date created:
date modified:
2024-04-15T07:08:02Z
main entity:
{"identifier":"Q6495941","url":"https://www.wikidata.org/entity/Q6495941"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/8/83/Lathosterol.png","width":1237,"height":945}
fields total:
13
integrity:
15